骨髓增生异常综合征的细胞遗传学

Cytogenetics in myelodysplastic syndromes.

作者信息

Ohyashiki Kazuma, Kodama Atsushi, Ohyashiki Junko H

机构信息

First Department of Internal Medicine, Tokyo Medical University, Tokyo, Japan.

出版信息

Methods Mol Biol. 2011;730:79-88. doi: 10.1007/978-1-61779-074-4_6.

DOI:10.1007/978-1-61779-074-4_6

PMID:21431635

Abstract

Cytogenetic information in patients with myelodysplastic syndrome (MDS) is important in predicting prognosis and therapeutic direction. In MDS, the detection of numerical type abnormalities, either whole chromosome or partial chromosomal segments, is important. In general, conventional banding chromosome analysis is useful in detecting chromosome changes in MDS and is able to predict prognosis. More recently, uniparental disomy at various loci has been found in some MDS patients and target genes located within the deleted chromosome regions; these deletions are either cytogenetically detectable resulting in partial monosomy, or cryptic. Further therapeutic approaches for MDS patients may require more precise cytogenetic information in the near future.

摘要

骨髓增生异常综合征（MDS）患者的细胞遗传学信息对于预测预后和指导治疗方向至关重要。在MDS中，检测整条染色体或部分染色体片段的数目型异常很重要。一般来说，传统的染色体显带分析有助于检测MDS中的染色体变化，并能够预测预后。最近，在一些MDS患者中发现了不同位点的单亲二体以及位于缺失染色体区域内的靶基因；这些缺失要么在细胞遗传学上可检测到，导致部分单体，要么是隐匿性的。在不久的将来，MDS患者的进一步治疗方法可能需要更精确的细胞遗传学信息。